#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MUL1	79594	broad.mit.edu	37	1	20827839	20827839	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6980-01A-11D-1945-08	TCGA-55-6980-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cbbf3b76-5a2d-4882-9a93-6ffa043abb59	79e91d69-af03-4bb9-9c1d-d07c81437507	g.chr1:20827839C>T	ENST00000264198.3	-	4	539	c.403G>A	c.(403-405)Gtg>Atg	p.V135M		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	135					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|cellular response to exogenous dsRNA (GO:0071360)|mitochondrial fission (GO:0000266)|mitochondrion localization (GO:0051646)|negative regulation of cell growth (GO:0030308)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of innate immune response (GO:0045824)|negative regulation of mitochondrial fusion (GO:0010637)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein sumoylation (GO:0033235)|protein stabilization (GO:0050821)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)	cytoplasm (GO:0005737)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		GCCACATCCACGCCATCCTCG	0.507																																							uc001bdi.3		NA																	0					0						c.(403-405)GTG>ATG		mitochondrial ubiquitin ligase activator of NFKB							81.0	87.0	85.0					1																	20827839		2203	4300	6503	SO:0001583	missense	79594				activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:20827839C>T	BC014010	CCDS208.1	1p36.12	2013-01-11	2010-09-17	2008-03-26	ENSG00000090432	ENSG00000090432		"""RING-type (C3HC4) zinc fingers"""	25762	protein-coding gene	gene with protein product	"""ring finger protein 218"", ""mitochondria-anchored protein ligase"", ""growth inhibition and death E3 ligase"", ""mitochondrial ubiquitin ligase activator of NFKB 1"""	612037	"""chromosome 1 open reading frame 166"""	C1orf166		18591963, 12761501, 18213395, 18207745	Standard	NM_024544		Approved	FLJ12875, MULAN, RNF218, MAPL, GIDE	uc001bdi.4	Q969V5	OTTHUMG00000002838	ENST00000264198.3:c.403G>A	1.37:g.20827839C>T	ENSP00000264198:p.Val135Met						p.V135M	NM_024544	NP_078820	Q969V5	MUL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	4	560	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	135			Mitochondrial intermembrane (Potential).		B5M497|Q7Z431|Q9H9B5	Missense_Mutation	SNP	ENST00000264198.3	37	c.403G>A	CCDS208.1	.	.	.	.	.	.	.	.	.	.	C	9.877	1.200587	0.22121	.	.	ENSG00000090432	ENST00000264198	T	0.23950	1.88	6.17	1.74	0.24563	.	0.560078	0.21260	N	0.077486	T	0.18964	0.0455	L	0.43152	1.355	0.09310	N	0.999999	B	0.22909	0.077	B	0.21708	0.036	T	0.17684	-1.0361	10	0.56958	D	0.05	-12.3591	5.7022	0.17889	0.0:0.5766:0.1461:0.2774	.	135	Q969V5	MUL1_HUMAN	M	135	ENSP00000264198:V135M	ENSP00000264198:V135M	V	-	1	0	MUL1	20700426	0.000000	0.05858	0.034000	0.17996	0.056000	0.15407	0.235000	0.17948	0.476000	0.27440	-0.126000	0.14955	GTG		0.507	MUL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007951.1	NM_024544		15	101	0	0	0	0.00499	0	15	101				
BCL10	8915	broad.mit.edu	37	1	85733383	85733383	+	Missense_Mutation	SNP	T	T	G			TCGA-55-6980-01A-11D-1945-08	TCGA-55-6980-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cbbf3b76-5a2d-4882-9a93-6ffa043abb59	79e91d69-af03-4bb9-9c1d-d07c81437507	g.chr1:85733383T>G	ENST00000370580.1	-	3	1366	c.629A>C	c.(628-630)gAa>gCa	p.E210A		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	210			Missing (in follicular lymphoma). {ECO:0000269|PubMed:9989495}.		adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		TCCTTCTTCTTCTAACTGTAG	0.423			T	IGH@	MALT																																NSCLC(34;993 1034 12176 32621 50182)	NSCLC(34;993 1034 12176 32621 50182)	uc001dkz.2		NA		Dom	yes		1	1p22	8915	T	B-cell CLL/lymphoma 10			L	IGH@		MALT 		0				lung(2)	2						c.(628-630)GAA>GCA		B-cell CLL/lymphoma 10							71.0	75.0	73.0					1																	85733383		2203	4300	6503	SO:0001583	missense	8915				apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr1:85733383T>G	AJ006288	CCDS704.1	1p22	2008-07-18			ENSG00000142867	ENSG00000142867			989	protein-coding gene	gene with protein product	"""CARD-like apoptotic protein"", ""CARD-containing apoptotic signaling protein"", ""CARD containing molecule enhancing NF-kB"", ""caspase-recruiting domain-containing protein"", ""CARD-containing proapoptotic protein"""	603517				9989495	Standard	NM_003921		Approved	CARMEN, CIPER, mE10, c-E10, CLAP	uc021opd.1	O95999	OTTHUMG00000009965	ENST00000370580.1:c.629A>C	1.37:g.85733383T>G	ENSP00000359612:p.Glu210Ala						p.E210A	NM_003921	NP_003912	O95999	BCL10_HUMAN		all cancers(265;0.0114)|Epithelial(280;0.0311)	4	1334	-			210		Missing (in follicular lymphoma).			Q5VUF1	Missense_Mutation	SNP	ENST00000370580.1	37	c.629A>C	CCDS704.1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.249870	0.59212	.	.	ENSG00000142867	ENST00000370580;ENST00000271015	.	.	.	5.82	5.82	0.92795	.	0.150653	0.56097	D	0.000023	T	0.44953	0.1318	L	0.47716	1.5	0.51767	D	0.999932	B	0.29531	0.247	B	0.28139	0.086	T	0.50329	-0.8841	9	0.49607	T	0.09	-10.8293	16.1777	0.81874	0.0:0.0:0.0:1.0	.	210	O95999	BCL10_HUMAN	A	210	.	ENSP00000271015:E210A	E	-	2	0	BCL10	85505971	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	5.767000	0.68850	2.222000	0.72286	0.383000	0.25322	GAA		0.423	BCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027612.1	NM_003921		4	66	0	0	0	0.000248	0	4	66				
NTM	50863	broad.mit.edu	37	11	132082022	132082022	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6980-01A-11D-1945-08	TCGA-55-6980-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cbbf3b76-5a2d-4882-9a93-6ffa043abb59	79e91d69-af03-4bb9-9c1d-d07c81437507	g.chr11:132082022G>C	ENST00000374786.1	+	3	986	c.507G>C	c.(505-507)tgG>tgC	p.W169C	NTM_ENST00000374791.3_Missense_Mutation_p.W169C|NTM_ENST00000425719.2_Missense_Mutation_p.W169C|NTM_ENST00000427481.2_Missense_Mutation_p.W160C|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000539799.1_Missense_Mutation_p.W169C|NTM_ENST00000374784.1_Missense_Mutation_p.W169C	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	169	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						CGGTTACTTGGAGACACATCT	0.433																																							uc001qgp.2		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(505-507)TGG>TGC		neurotrimin isoform 1							151.0	150.0	150.0					11																	132082022		2201	4297	6498	SO:0001583	missense	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132082022G>C	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.507G>C	11.37:g.132082022G>C	ENSP00000363918:p.Trp169Cys					NTM_uc001qgm.2_Missense_Mutation_p.W169C|NTM_uc010sch.1_Missense_Mutation_p.W160C|NTM_uc010sci.1_Missense_Mutation_p.W169C|NTM_uc010scj.1_Missense_Mutation_p.W128C|NTM_uc001qgo.2_Missense_Mutation_p.W169C|NTM_uc001qgq.2_Missense_Mutation_p.W169C|NTM_uc001qgr.2_5'UTR	p.W169C	NM_016522	NP_057606	Q9P121	NTRI_HUMAN			3	1171	+			169			Ig-like C2-type 2.		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	c.507G>C	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941951	0.73557	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	D;D;D;D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.97;-3.97;-3.97;-3.97	5.77	5.77	0.91146	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.98985	0.9654	H	0.97415	4	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.96;1.0;0.96;0.977;1.0	D;P;D;P;P;D	0.91635	0.998;0.856;0.999;0.856;0.841;0.997	D	0.99026	1.0819	10	0.87932	D	0	-12.9736	20.3473	0.98799	0.0:0.0:1.0:0.0	.	169;160;169;169;169;169	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	C	169;169;160;160;169;169;169	ENSP00000363923:W169C;ENSP00000437668:W169C;ENSP00000448104:W160C;ENSP00000416320:W160C;ENSP00000363918:W169C;ENSP00000396722:W169C;ENSP00000363916:W169C	ENSP00000363916:W169C	W	+	3	0	NTM	131587232	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.900000	0.92551	2.884000	0.98904	0.655000	0.94253	TGG		0.433	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		3	102	0	0	0	0.004672	0	3	102				
WNK1	65125	broad.mit.edu	37	12	993965	993965	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6980-01A-11D-1945-08	TCGA-55-6980-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cbbf3b76-5a2d-4882-9a93-6ffa043abb59	79e91d69-af03-4bb9-9c1d-d07c81437507	g.chr12:993965C>T	ENST00000315939.6	+	19	4638	c.3995C>T	c.(3994-3996)aCa>aTa	p.T1332I	WNK1_ENST00000535572.1_Missense_Mutation_p.T1085I|WNK1_ENST00000530271.2_Missense_Mutation_p.T1830I|WNK1_ENST00000340908.4_Missense_Mutation_p.T925I|WNK1_ENST00000537687.1_Missense_Mutation_p.T1592I	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1332					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACAGGACCAACATTTCCAGTA	0.493																																					Colon(19;451 567 6672 12618 28860)	Colon(19;451 567 6672 12618 28860)	uc001qio.3		NA																	0				stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(3994-3996)ACA>ATA		WNK lysine deficient protein kinase 1							117.0	104.0	108.0					12																	993965		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:993965C>T	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.3995C>T	12.37:g.993965C>T	ENSP00000313059:p.Thr1332Ile					WNK1_uc001qip.3_Missense_Mutation_p.T1085I|WNK1_uc001qir.3_Missense_Mutation_p.T505I	p.T1332I	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		19	4502	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1332					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.3995C>T	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	9.092	1.002067	0.19121	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.75	2.71	0.32032	.	1.294050	0.05069	N	0.481283	T	0.32496	0.0831	L	0.44542	1.39	0.09310	N	1	B;B;B	0.18461	0.028;0.012;0.007	B;B;B	0.23716	0.048;0.022;0.01	T	0.40534	-0.9558	10	0.66056	D	0.02	1.3615	11.0141	0.47679	0.0:0.7855:0.0:0.2145	.	1085;1085;1332	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	I	1085;1332;1592;505;1830;925	ENSP00000441972:T1085I;ENSP00000313059:T1332I;ENSP00000444465:T1592I;ENSP00000433548:T1830I;ENSP00000341292:T925I	ENSP00000252477:T505I	T	+	2	0	WNK1	864226	0.625000	0.27111	0.145000	0.22337	0.936000	0.57629	1.605000	0.36815	0.275000	0.22094	-0.140000	0.14226	ACA		0.493	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		7	63	0	0	0	0.001984	0	7	63				
ITGA5	3678	broad.mit.edu	37	12	54799449	54799449	+	Splice_Site	SNP	C	C	T	rs141341610	byFrequency	TCGA-55-6980-01A-11D-1945-08	TCGA-55-6980-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cbbf3b76-5a2d-4882-9a93-6ffa043abb59	79e91d69-af03-4bb9-9c1d-d07c81437507	g.chr12:54799449C>T	ENST00000293379.4	-	11	1276	c.1015G>A	c.(1015-1017)Ggg>Agg	p.G339R	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	339					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						ACCACTCACCCATCCCCATTG	0.552													C|||	9	0.00179712	0.0061	0.0	5008	,	,		18237	0.0		0.001	False		,,,				2504	0.0						uc001sga.2		NA																	0				ovary(2)	2						c.(1015-1017)GGG>AGG		integrin alpha 5 precursor		C	ARG/GLY	24,4382	25.3+/-52.1	1,22,2180	91.0	76.0	81.0		1015	4.4	1.0	12	dbSNP_134	81	0,8600		0,0,4300	yes	missense-near-splice	ITGA5	NM_002205.2	125	1,22,6480	TT,TC,CC		0.0,0.5447,0.1845	probably-damaging	339/1050	54799449	24,12982	2203	4300	6503	SO:0001630	splice_region_variant	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54799449C>T		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.1016+1G>A	12.37:g.54799449C>T						ITGA5_uc010sow.1_RNA|ITGA5_uc009znp.1_RNA	p.G339R	NM_002205	NP_002196	P08648	ITA5_HUMAN			11	1083	-			339			Potential.|Extracellular (Potential).|FG-GAP 5.		Q96HA5	Missense_Mutation	SNP	ENST00000293379.4	37	c.1015G>A	CCDS8880.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	18.54	3.645936	0.67358	0.005447	0.0	ENSG00000161638	ENST00000293379	D	0.91237	-2.81	4.36	4.36	0.52297	.	0.000000	0.85682	D	0.000000	D	0.93569	0.7947	M	0.84156	2.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93945	0.7227	10	0.87932	D	0	.	14.7843	0.69790	0.0:1.0:0.0:0.0	.	339	P08648	ITA5_HUMAN	R	339	ENSP00000293379:G339R	ENSP00000293379:G339R	G	-	1	0	ITGA5	53085716	1.000000	0.71417	0.974000	0.42286	0.425000	0.31504	4.388000	0.59633	2.429000	0.82318	0.462000	0.41574	GGG		0.552	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1		Missense_Mutation	9	62	0	0	0	0.001855	0	9	62				
SYNE2	23224	broad.mit.edu	37	14	64519395	64519395	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6980-01A-11D-1945-08	TCGA-55-6980-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cbbf3b76-5a2d-4882-9a93-6ffa043abb59	79e91d69-af03-4bb9-9c1d-d07c81437507	g.chr14:64519395A>G	ENST00000344113.4	+	48	8976	c.8764A>G	c.(8764-8766)Att>Gtt	p.I2922V	SYNE2_ENST00000358025.3_Missense_Mutation_p.I2922V|SYNE2_ENST00000554584.1_Missense_Mutation_p.I2955V|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2922					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAATCTTAAGATTAGGACCAA	0.348																																							uc001xgm.2		NA																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(8764-8766)ATT>GTT		spectrin repeat containing, nuclear envelope 2							31.0	29.0	30.0					14																	64519395		1840	4082	5922	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64519395A>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.8764A>G	14.37:g.64519395A>G	ENSP00000341781:p.Ile2922Val					SYNE2_uc001xgl.2_Missense_Mutation_p.I2922V	p.I2922V	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	48	8994	+			2922			Potential.|Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.8764A>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	0.499	-0.871586	0.02570	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.55588	1.41;1.41;0.51	5.51	1.64	0.23874	.	0.237279	0.28815	N	0.014046	T	0.26666	0.0652	N	0.08118	0	0.19775	N	0.999951	B;B	0.09022	0.001;0.002	B;B	0.11329	0.002;0.006	T	0.12889	-1.0530	10	0.30854	T	0.27	.	5.9106	0.19027	0.7158:0.1388:0.1454:0.0	.	2922;2922	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	V	2922;2922;2955;2955	ENSP00000350719:I2922V;ENSP00000341781:I2922V;ENSP00000452570:I2955V	ENSP00000261678:I2955V	I	+	1	0	SYNE2	63589148	0.979000	0.34478	0.003000	0.11579	0.240000	0.25518	2.065000	0.41442	0.032000	0.15435	0.260000	0.18958	ATT		0.348	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		6	18	0	0	0	0.001168	0	6	18				
YBX2	51087	broad.mit.edu	37	17	7192945	7192945	+	Silent	SNP	G	G	A			TCGA-55-6980-01A-11D-1945-08	TCGA-55-6980-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cbbf3b76-5a2d-4882-9a93-6ffa043abb59	79e91d69-af03-4bb9-9c1d-d07c81437507	g.chr17:7192945G>A	ENST00000007699.5	-	7	1011	c.948C>T	c.(946-948)ccC>ccT	p.P316P	YBX2_ENST00000570627.1_5'Flank	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	316	Pro-rich.|Required for mRNA-binding.				mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GTGGGCGCTGGGGCTCAGGCC	0.721																																							uc002gfq.2		NA																	0					0						c.(946-948)CCC>CCT		Y box binding protein 2							45.0	43.0	43.0					17																	7192945		2203	4300	6503	SO:0001819	synonymous_variant	51087				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding	g.chr17:7192945G>A	AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.948C>T	17.37:g.7192945G>A							p.P316P	NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN			7	1005	-			316			Pro-rich.|Required for mRNA-binding.		D3DTP1|Q8N4P0	Silent	SNP	ENST00000007699.5	37	c.948C>T	CCDS11098.1																																																																																				0.721	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440172.2	NM_015982		9	27	0	0	0	0.006214	0	9	27				
LRRC37A4P	55073	broad.mit.edu	37	17	43625427	43625427	+	RNA	SNP	G	G	C	rs577260672	byFrequency	TCGA-55-6980-01A-11D-1945-08	TCGA-55-6980-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cbbf3b76-5a2d-4882-9a93-6ffa043abb59	79e91d69-af03-4bb9-9c1d-d07c81437507	g.chr17:43625427G>C	ENST00000586411.1	-	0	1652				RP11-798G7.6_ENST00000586348.1_lincRNA																							TCTGTAGTGGGTTCTGGAATG	0.507																																							uc002ijh.2		NA																	0					NA						c.(577-579)CCC>GCC		Homo sapiens cDNA FLJ45049 fis, clone BRAWH3022347.																																						0							g.chr17:43625427G>C																													17.37:g.43625427G>C						uc010wjv.1_Intron	p.P193A							1	698	-									Missense_Mutation	SNP	ENST00000586411.1	37	c.577C>G																																																																																					0.507	RP11-798G7.7-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000452150.1			27	186	0	0	0	0.00632	0	27	186				
POTEC	388468	broad.mit.edu	37	18	14524916	14524916	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6980-01A-11D-1945-08	TCGA-55-6980-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cbbf3b76-5a2d-4882-9a93-6ffa043abb59	79e91d69-af03-4bb9-9c1d-d07c81437507	g.chr18:14524916G>C	ENST00000358970.5	-	7	1192	c.1193C>G	c.(1192-1194)cCa>cGa	p.P398R		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	398										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CCATGCCTCTGGCTGGCTATT	0.313																																							uc010dln.2		NA																	0				skin(3)	3						c.(1192-1194)CCA>CGA		ANKRD26-like family B, member 2							25.0	25.0	25.0					18																	14524916		690	1584	2274	SO:0001583	missense	388468							g.chr18:14524916G>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1193C>G	18.37:g.14524916G>C	ENSP00000351856:p.Pro398Arg					POTEC_uc010xaj.1_Intron	p.P398R	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			7	1647	-			398						Missense_Mutation	SNP	ENST00000358970.5	37	c.1193C>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	G	1.757	-0.487768	0.04352	.	.	ENSG00000183206	ENST00000358970	T	0.27402	1.67	1.19	-0.988	0.10245	.	.	.	.	.	T	0.15305	0.0369	L	0.29908	0.895	0.09310	N	1	B	0.30068	0.267	B	0.24701	0.055	T	0.29941	-0.9995	9	0.12430	T	0.62	.	4.1196	0.10099	0.454:0.0:0.546:0.0	.	398	B2RU33	POTEC_HUMAN	R	398	ENSP00000351856:P398R	ENSP00000351856:P398R	P	-	2	0	POTEC	14514916	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-0.641000	0.05434	-0.364000	0.08088	0.194000	0.17425	CCA		0.313	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		4	61	0	0	0	0.000248	0	4	61				
DOK6	220164	broad.mit.edu	37	18	67365760	67365760	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6980-01A-11D-1945-08	TCGA-55-6980-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cbbf3b76-5a2d-4882-9a93-6ffa043abb59	79e91d69-af03-4bb9-9c1d-d07c81437507	g.chr18:67365760T>A	ENST00000382713.5	+	5	720	c.530T>A	c.(529-531)gTg>gAg	p.V177E	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	177	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.									central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GTCAAACTGGTGATGTGGCCT	0.473																																							uc002lkl.2		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(529-531)GTG>GAG		docking protein 6							111.0	91.0	98.0					18																	67365760		2203	4300	6503	SO:0001583	missense	220164						insulin receptor binding	g.chr18:67365760T>A	AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.530T>A	18.37:g.67365760T>A	ENSP00000372160:p.Val177Glu						p.V177E	NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN			5	720	+		Colorectal(73;0.083)|Esophageal squamous(42;0.131)	177			IRS-type PTB.		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Missense_Mutation	SNP	ENST00000382713.5	37	c.530T>A	CCDS32841.1	.	.	.	.	.	.	.	.	.	.	T	16.04	3.010918	0.54361	.	.	ENSG00000206052	ENST00000382713	T	0.77358	-1.09	5.72	5.72	0.89469	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.000000	0.85682	D	0.000000	T	0.76962	0.4061	M	0.67397	2.05	0.80722	D	1	B	0.28208	0.203	B	0.27608	0.081	T	0.76399	-0.2973	10	0.62326	D	0.03	.	15.1721	0.72881	0.0:0.0:0.0:1.0	.	177	Q6PKX4	DOK6_HUMAN	E	177	ENSP00000372160:V177E	ENSP00000372160:V177E	V	+	2	0	DOK6	65516740	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.925000	0.87563	2.187000	0.69744	0.482000	0.46254	GTG		0.473	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721		4	44	0	0	0	0.000248	0	4	44				
ZNF780A	284323	broad.mit.edu	37	19	40587729	40587729	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6980-01A-11D-1945-08	TCGA-55-6980-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cbbf3b76-5a2d-4882-9a93-6ffa043abb59	79e91d69-af03-4bb9-9c1d-d07c81437507	g.chr19:40587729G>C	ENST00000595687.2	-	5	438	c.229C>G	c.(229-231)Cca>Gca	p.P77A	ZNF780A_ENST00000455521.1_Missense_Mutation_p.P78A|ZNF780A_ENST00000450241.2_Missense_Mutation_p.P43A|ZNF780A_ENST00000340963.5_Missense_Mutation_p.P77A|ZNF780A_ENST00000594395.1_Missense_Mutation_p.P78A|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Missense_Mutation_p.P93A	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	77	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CACTTACCTGGATACCGTCTG	0.448																																							uc002omy.2		NA																	0					0						c.(229-231)CCA>GCA		zinc finger protein 780A isoform b							205.0	167.0	180.0					19																	40587729		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40587729G>C	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.229C>G	19.37:g.40587729G>C	ENSP00000472189:p.Pro77Ala					ZNF780A_uc002omw.3_Missense_Mutation_p.P93A|ZNF780A_uc002omz.2_Missense_Mutation_p.P77A|ZNF780A_uc010xvh.1_Missense_Mutation_p.P78A	p.P77A	NM_001010880	NP_001010880	O75290	Z780A_HUMAN			5	454	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		77			KRAB.		E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.229C>G	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	G	8.598	0.886182	0.17540	.	.	ENSG00000197782	ENST00000443072;ENST00000450241;ENST00000414720;ENST00000455521;ENST00000340963	T;T;T	0.06294	5.85;3.32;3.32	2.14	1.02	0.19986	Krueppel-associated box (1);	.	.	.	.	T	0.07007	0.0178	M	0.61703	1.905	0.20764	N	0.99985	P;B;B	0.34977	0.478;0.363;0.216	B;B;B	0.30943	0.111;0.096;0.122	T	0.27226	-1.0080	9	0.48119	T	0.1	.	5.6961	0.17857	0.0:0.0:0.6515:0.3485	.	78;77;93	E9PB48;O75290;O75290-2	.;Z780A_HUMAN;.	A	77;77;93;78;77	ENSP00000416294:P93A;ENSP00000400997:P78A;ENSP00000341507:P77A	ENSP00000341507:P77A	P	-	1	0	ZNF780A	45279569	.	.	0.134000	0.22075	0.259000	0.26198	.	.	0.196000	0.20367	0.313000	0.20887	CCA		0.448	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		10	87	0	0	0	0.008291	0	10	87				
CD8B	926	broad.mit.edu	37	2	87085348	87085348	+	Missense_Mutation	SNP	T	T	G			TCGA-55-6980-01A-11D-1945-08	TCGA-55-6980-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cbbf3b76-5a2d-4882-9a93-6ffa043abb59	79e91d69-af03-4bb9-9c1d-d07c81437507	g.chr2:87085348T>G	ENST00000390655.6	-	2	293	c.235A>C	c.(235-237)Act>Cct	p.T79P	CD8B_ENST00000393759.2_Missense_Mutation_p.T79P|CD8B_ENST00000393761.2_Missense_Mutation_p.T79P|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000349455.3_Missense_Mutation_p.T79P|CD8B_ENST00000331469.2_Missense_Mutation_p.T79P	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	79	Ig-like V-type.				immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						CCGTGGATAGTCCCTTTTGCG	0.557																																							uc002srz.2		NA																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(235-237)ACT>CCT		CD8b antigen isoform 5 precursor							109.0	98.0	102.0					2																	87085348		2203	4300	6503	SO:0001583	missense	926				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87085348T>G		CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1707	protein-coding gene	gene with protein product		186730	"""CD8 antigen, beta polypeptide 1 (p37)"""	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000390655.6:c.235A>C	2.37:g.87085348T>G	ENSP00000375070:p.Thr79Pro					RMND5A_uc002srs.3_Intron|CD8B_uc002srw.2_Missense_Mutation_p.T79P|CD8B_uc002srx.2_Missense_Mutation_p.T79P|CD8B_uc002sry.2_Missense_Mutation_p.T79P|CD8B_uc010fgt.2_Missense_Mutation_p.T79P|CD8B_uc002ssa.2_Missense_Mutation_p.T79P|CD8B_uc010yto.1_Missense_Mutation_p.T79P	p.T79P	NM_004931	NP_004922	P10966	CD8B_HUMAN			2	285	-			79			Ig-like V-type.|Extracellular (Potential).		P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Missense_Mutation	SNP	ENST00000390655.6	37	c.235A>C	CCDS1997.1	.	.	.	.	.	.	.	.	.	.	T	9.763	1.170574	0.21621	.	.	ENSG00000172116	ENST00000393761;ENST00000393759;ENST00000349455;ENST00000331469;ENST00000390655;ENST00000445248	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	4.35	0.0462	0.14233	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.353360	0.04788	N	0.431024	T	0.48537	0.1505	L	0.27053	0.805	0.09310	N	1	B;B;B;B;B;B	0.20988	0.025;0.05;0.009;0.013;0.016;0.041	B;B;B;B;B;B	0.20577	0.016;0.03;0.009;0.007;0.007;0.017	T	0.38929	-0.9638	10	0.48119	T	0.1	-0.025	6.5655	0.22509	0.0:0.5435:0.0:0.4565	.	79;79;79;79;79;79	Q496E2;Q53QL8;P10966;P10966-3;P10966-2;P10966-6	.;.;CD8B_HUMAN;.;.;.	P	79	ENSP00000377358:T79P;ENSP00000377356:T79P;ENSP00000340592:T79P;ENSP00000331172:T79P;ENSP00000375070:T79P	ENSP00000331172:T79P	T	-	1	0	CD8B	86938859	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-2.546000	0.00932	0.041000	0.15688	0.454000	0.30748	ACT		0.557	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330402.1	NM_172099		17	65	0	0	0	0.00499	0	17	65				
THNSL2	55258	broad.mit.edu	37	2	88472698	88472698	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6980-01A-11D-1945-08	TCGA-55-6980-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cbbf3b76-5a2d-4882-9a93-6ffa043abb59	79e91d69-af03-4bb9-9c1d-d07c81437507	g.chr2:88472698C>T	ENST00000324166.5	+	1	1720	c.29C>T	c.(28-30)gCc>gTc	p.A10V	THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000402102.1_Missense_Mutation_p.A10V|THNSL2_ENST00000377254.3_Missense_Mutation_p.A10V|THNSL2_ENST00000358591.2_Missense_Mutation_p.A10V|THNSL2_ENST00000343544.4_Missense_Mutation_p.A10V	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	10					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						AGGGGCGTAGCCCCACGGGTC	0.617																																							uc002ssz.3		NA																	0				ovary(1)	1						c.(28-30)GCC>GTC		threonine synthase-like 2							60.0	69.0	66.0					2																	88472698		2203	4300	6503	SO:0001583	missense	55258				threonine biosynthetic process		threonine synthase activity	g.chr2:88472698C>T		CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.29C>T	2.37:g.88472698C>T	ENSP00000327323:p.Ala10Val					THNSL2_uc002ssv.2_Intron|THNSL2_uc002ssw.3_Missense_Mutation_p.A10V|THNSL2_uc002ssx.3_Intron|THNSL2_uc002sta.3_Intron|THNSL2_uc002ssy.3_Missense_Mutation_p.A10V	p.A10V	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN			2	182	+			10					B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Missense_Mutation	SNP	ENST00000324166.5	37	c.29C>T	CCDS2002.2	.	.	.	.	.	.	.	.	.	.	C	11.07	1.531995	0.27387	.	.	ENSG00000144115	ENST00000358591;ENST00000377254;ENST00000402102;ENST00000419759;ENST00000343544;ENST00000324166	T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46	5.36	4.48	0.54585	Pyridoxal phosphate-dependent enzyme, beta subunit (1);	0.532223	0.17554	U	0.170043	T	0.21427	0.0516	L	0.28274	0.84	0.09310	N	1	B;B	0.16166	0.002;0.016	B;B	0.12837	0.008;0.005	T	0.14282	-1.0478	10	0.42905	T	0.14	.	9.2679	0.37652	0.0:0.8375:0.0:0.1625	.	10;10	Q86YJ6;Q86YJ6-2	THNS2_HUMAN;.	V	10	ENSP00000351402:A10V;ENSP00000366464:A10V;ENSP00000384475:A10V;ENSP00000391300:A10V;ENSP00000339563:A10V;ENSP00000327323:A10V	ENSP00000327323:A10V	A	+	2	0	THNSL2	88253813	0.116000	0.22171	0.147000	0.22382	0.982000	0.71751	2.081000	0.41596	1.249000	0.43950	0.561000	0.74099	GCC		0.617	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	NM_018271		8	88	0	0	0	0.004482	0	8	88				
PLA2R1	22925	broad.mit.edu	37	2	160862239	160862239	+	Silent	SNP	C	C	T			TCGA-55-6980-01A-11D-1945-08	TCGA-55-6980-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cbbf3b76-5a2d-4882-9a93-6ffa043abb59	79e91d69-af03-4bb9-9c1d-d07c81437507	g.chr2:160862239C>T	ENST00000283243.7	-	11	1964	c.1758G>A	c.(1756-1758)acG>acA	p.T586T	PLA2R1_ENST00000392771.1_Silent_p.T586T	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	586	C-type lectin 3. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TGTATTCTCCCGTATCATTTT	0.458																																							uc002ube.1		NA																	0				skin(2)|ovary(1)	3						c.(1756-1758)ACG>ACA		phospholipase A2 receptor 1 isoform 1 precursor							106.0	103.0	104.0					2																	160862239		2203	4300	6503	SO:0001819	synonymous_variant	22925				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160862239C>T	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.1758G>A	2.37:g.160862239C>T						PLA2R1_uc010zcp.1_Silent_p.T586T|PLA2R1_uc002ubf.2_Silent_p.T586T	p.T586T	NM_007366	NP_031392	Q13018	PLA2R_HUMAN			11	1965	-			586			Extracellular (Potential).|C-type lectin 3.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Silent	SNP	ENST00000283243.7	37	c.1758G>A	CCDS33309.1																																																																																				0.458	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			9	83	0	0	0	0.004482	0	9	83				
CYYR1	116159	broad.mit.edu	37	21	27840918	27840918	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6980-01A-11D-1945-08	TCGA-55-6980-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cbbf3b76-5a2d-4882-9a93-6ffa043abb59	79e91d69-af03-4bb9-9c1d-d07c81437507	g.chr21:27840918C>T	ENST00000299340.4	-	4	710	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	AP001596.6_ENST00000444306.1_RNA|AP001596.6_ENST00000421771.1_RNA|CYYR1_ENST00000435845.2_3'UTR|AP001597.1_ENST00000414486.1_RNA|AP001596.6_ENST00000429340.1_RNA|AP001597.1_ENST00000357401.3_RNA	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	123						integral component of membrane (GO:0016021)				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GCACAGTATTCCATCTCGTGG	0.507																																							uc002ymd.2		NA																	0					0						c.(367-369)GAA>AAA		cysteine and tyrosine-rich 1 protein precursor							117.0	95.0	103.0					21																	27840918		2203	4300	6503	SO:0001583	missense	116159					integral to membrane		g.chr21:27840918C>T	AY061853	CCDS13578.1	21q21.2	2014-07-04	2005-07-24		ENSG00000166265	ENSG00000166265			16274	protein-coding gene	gene with protein product			"""cysteine and tyrosine-rich 1"""	C21orf95		12036297, 12062809, 24981926	Standard	NM_052954		Approved		uc002ymd.3	Q96J86	OTTHUMG00000078689	ENST00000299340.4:c.367G>A	21.37:g.27840918C>T	ENSP00000299340:p.Glu123Lys					CYYR1_uc011ack.1_RNA|CYYR1_uc002yme.2_Missense_Mutation_p.E124K	p.E123K	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN			4	689	-			123			Cytoplasmic (Potential).		A0A059TD09|A8MTU9|B2R845|Q53ER3|Q5JPD0|Q96NV7|R9QAJ4|W8CQB3	Missense_Mutation	SNP	ENST00000299340.4	37	c.367G>A	CCDS13578.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462438	0.43736	.	.	ENSG00000166265	ENST00000299340	T	0.34667	1.35	4.13	2.3	0.28687	.	0.620218	0.17821	N	0.160856	T	0.32615	0.0835	L	0.51422	1.61	0.80722	D	1	B;B	0.31705	0.288;0.336	B;B	0.37833	0.168;0.259	T	0.11966	-1.0566	10	0.51188	T	0.08	-22.0988	5.9377	0.19175	0.0:0.7034:0.1929:0.1036	.	124;123	Q96J86-2;Q96J86	.;CYYR1_HUMAN	K	123	ENSP00000299340:E123K	ENSP00000299340:E123K	E	-	1	0	CYYR1	26762789	1.000000	0.71417	0.942000	0.38095	0.045000	0.14185	1.569000	0.36428	0.682000	0.31407	-0.157000	0.13467	GAA		0.507	CYYR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171654.2	NM_052954		22	55	0	0	0	0.00278	0	22	55				
PLXNB2	23654	broad.mit.edu	37	22	50721832	50721832	+	Silent	SNP	C	C	T			TCGA-55-6980-01A-11D-1945-08	TCGA-55-6980-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cbbf3b76-5a2d-4882-9a93-6ffa043abb59	79e91d69-af03-4bb9-9c1d-d07c81437507	g.chr22:50721832C>T	ENST00000449103.1	-	16	2753	c.2613G>A	c.(2611-2613)ggG>ggA	p.G871G	PLXNB2_ENST00000496720.1_5'UTR|PLXNB2_ENST00000359337.4_Silent_p.G871G			O15031	PLXB2_HUMAN	plexin B2	871	IPT/TIG 1.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCTCGACACCCCCCGTGAAAG	0.662																																							uc003bkv.3		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2611-2613)GGG>GGA		plexin B2 precursor							46.0	54.0	52.0					22																	50721832		2061	4193	6254	SO:0001819	synonymous_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50721832C>T		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.2613G>A	22.37:g.50721832C>T						PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank	p.G871G	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	16	2719	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	871			Extracellular (Potential).|IPT/TIG 1.		A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	c.2613G>A	CCDS43035.1																																																																																				0.662	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		4	27	0	0	0	0.000248	0	4	27				
CRHBP	1393	broad.mit.edu	37	5	76249905	76249905	+	Missense_Mutation	SNP	G	G	A	rs147365557		TCGA-55-6980-01A-11D-1945-08	TCGA-55-6980-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cbbf3b76-5a2d-4882-9a93-6ffa043abb59	79e91d69-af03-4bb9-9c1d-d07c81437507	g.chr5:76249905G>A	ENST00000274368.4	+	3	649	c.227G>A	c.(226-228)cGg>cAg	p.R76Q	CRHBP_ENST00000506501.1_Missense_Mutation_p.R76Q	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	76					behavioral response to ethanol (GO:0048149)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cellular response to cocaine (GO:0071314)|cellular response to drug (GO:0035690)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to potassium ion (GO:0035865)|cellular response to stress (GO:0033554)|cellular response to tumor necrosis factor (GO:0071356)|female pregnancy (GO:0007565)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|inflammatory response (GO:0006954)|learning or memory (GO:0007611)|maternal aggressive behavior (GO:0002125)|negative regulation of corticotropin secretion (GO:0051460)|negative regulation of corticotropin-releasing hormone receptor activity (GO:1900011)|regulated secretory pathway (GO:0045055)|regulation of corticotropin secretion (GO:0051459)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|synaptic transmission, dopaminergic (GO:0001963)	axon terminus (GO:0043679)|dendrite (GO:0030425)|dense core granule (GO:0031045)|extracellular space (GO:0005615)|intracellular (GO:0005622)|microtubule (GO:0005874)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|perikaryon (GO:0043204)|secondary lysosome (GO:0005767)|secretory granule (GO:0030141)|varicosity (GO:0043196)	corticotropin-releasing hormone binding (GO:0051424)|peptide binding (GO:0042277)			kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		ACCGCCGACCGGCCGCAGCTG	0.652																																							uc003ker.2		NA																	0					0						c.(226-228)CGG>CAG		corticotropin releasing hormone binding protein		G	GLN/ARG	0,4406		0,0,2203	53.0	59.0	57.0		227	-2.2	1.0	5	dbSNP_134	57	1,8599	1.2+/-3.3	0,1,4299	no	missense	CRHBP	NM_001882.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	76/323	76249905	1,13005	2203	4300	6503	SO:0001583	missense	1393				female pregnancy|learning or memory|signal transduction	soluble fraction		g.chr5:76249905G>A	X58022	CCDS4034.1	5q	2008-07-18	2001-11-28		ENSG00000145708	ENSG00000145708			2356	protein-coding gene	gene with protein product		122559	"""corticotropin releasing hormone-binding protein"""			8198617	Standard	NM_001882		Approved	CRF-BP, CRFBP	uc003ker.3	P24387	OTTHUMG00000102133	ENST00000274368.4:c.227G>A	5.37:g.76249905G>A	ENSP00000274368:p.Arg76Gln					CRHBP_uc010izx.2_Missense_Mutation_p.R76Q	p.R76Q	NM_001882	NP_001873	P24387	CRHBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)	3	507	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	76					Q53F32|Q6FHT5	Missense_Mutation	SNP	ENST00000274368.4	37	c.227G>A	CCDS4034.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.755946	0.31137	0.0	1.16E-4	ENSG00000145708	ENST00000274368;ENST00000506501	T;T	0.59772	0.24;0.24	4.01	-2.24	0.06909	CUB (1);	1.021980	0.07763	N	0.950439	T	0.40719	0.1128	N	0.25380	0.74	0.40306	D	0.978664	B;B	0.11235	0.001;0.004	B;B	0.12837	0.003;0.008	T	0.19811	-1.0294	10	0.19147	T	0.46	-12.5308	10.2076	0.43122	0.6867:0.0:0.3133:0.0	.	76;76	D6RHH7;P24387	.;CRHBP_HUMAN	Q	76	ENSP00000274368:R76Q;ENSP00000426097:R76Q	ENSP00000274368:R76Q	R	+	2	0	CRHBP	76285661	0.000000	0.05858	0.972000	0.41901	0.996000	0.88848	0.237000	0.17985	-0.528000	0.06366	0.462000	0.41574	CGG		0.652	CRHBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219972.2	NM_001882		4	96	0	0	0	0.001984	0	4	96				
GFPT2	9945	broad.mit.edu	37	5	179757728	179757728	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6980-01A-11D-1945-08	TCGA-55-6980-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cbbf3b76-5a2d-4882-9a93-6ffa043abb59	79e91d69-af03-4bb9-9c1d-d07c81437507	g.chr5:179757728G>A	ENST00000253778.8	-	6	675	c.506C>T	c.(505-507)aCg>aTg	p.T169M		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	169	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CTCGACCAACGTTGAAAACGT	0.388																																							uc003mlw.1		NA																	0				ovary(1)|skin(1)	2						c.(505-507)ACG>ATG		glutamine-fructose-6-phosphate transaminase 2	L-Glutamine(DB00130)						185.0	170.0	175.0					5																	179757728		1946	4144	6090	SO:0001583	missense	9945				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr5:179757728G>A	AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.506C>T	5.37:g.179757728G>A	ENSP00000253778:p.Thr169Met						p.T169M	NM_005110	NP_005101	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	604	-	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	169			Glutamine amidotransferase type-2.		Q53XM2|Q9BWS4	Missense_Mutation	SNP	ENST00000253778.8	37	c.506C>T	CCDS43411.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069242	0.76301	.	.	ENSG00000131459	ENST00000253778;ENST00000518906	T;T	0.77489	-1.1;-1.1	5.83	4.96	0.65561	Glutamine amidotransferase, type II (1);Glutamine amidotransferase, class-II (1);	0.150806	0.64402	N	0.000011	D	0.82379	0.5024	M	0.64404	1.975	0.58432	D	0.999998	P	0.42785	0.79	P	0.52109	0.69	T	0.81593	-0.0862	9	.	.	.	-12.7416	14.7767	0.69736	0.0688:0.0:0.9312:0.0	.	169	O94808	GFPT2_HUMAN	M	169;71	ENSP00000253778:T169M;ENSP00000431125:T71M	.	T	-	2	0	GFPT2	179690334	1.000000	0.71417	0.015000	0.15790	0.851000	0.48451	5.543000	0.67225	1.480000	0.48289	0.561000	0.74099	ACG		0.388	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110		8	69	0	0	0	0.00308	0	8	69				
ZAN	7455	broad.mit.edu	37	7	100391747	100391747	+	RNA	SNP	C	C	T			TCGA-55-6980-01A-11D-1945-08	TCGA-55-6980-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cbbf3b76-5a2d-4882-9a93-6ffa043abb59	79e91d69-af03-4bb9-9c1d-d07c81437507	g.chr7:100391747C>T	ENST00000348028.3	+	0	8016				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TCTAGCTGGGCAGCAGCTTTC	0.642																																							uc003uwj.2		NA																	0				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(7990-7992)GGC>GGT		zonadhesin isoform 3							50.0	54.0	53.0					7																	100391747		2062	4198	6260			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100391747C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100391747C>T						ZAN_uc003uwk.2_Intron|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Silent_p.G612G	p.G2664G	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		45	8157	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		2664			VWFC 5.|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	ENST00000348028.3	37	c.7992C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	11.193540|11.193540	0.99529|0.99529	.|.	.|.	ENSG00000146839|ENSG00000146839	ENST00000542585|ENST00000538115	T|.	0.15017|.	2.46|.	4.58|4.58	-8.98|-8.98	0.00754|0.00754	.|.	.|.	.|.	.|.	.|.	T|.	0.49270|.	0.1547|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.62253|.	-0.6893|.	6|.	0.87932|0.87932	D|D	0|0	.|.	2.5071|2.5071	0.04647|0.04647	0.1274:0.2918:0.3874:0.1933|0.1274:0.2918:0.3874:0.1933	.|.	.|.	.|.	.|.	V|X	2685|2619	ENSP00000444427:A2685V|.	ENSP00000422387:A2664V|ENSP00000425454:Q2598X	A|Q	+|+	2|1	0|0	ZAN|ZAN	100229683|100229683	0.113000|0.113000	0.22115|0.22115	0.331000|0.331000	0.25455|0.25455	0.016000|0.016000	0.09150|0.09150	-1.429000|-1.429000	0.02437|0.02437	-1.139000|-1.139000	0.02881|0.02881	-0.339000|-0.339000	0.08088|0.08088	GCA|CAG		0.642	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		5	36	0	0	0	0.000602	0	5	36				
CTIF	9811	broad.mit.edu	37	18	46284770	46284771	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-6980-01A-11D-1945-08	TCGA-55-6980-11A-01D-1945-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cbbf3b76-5a2d-4882-9a93-6ffa043abb59	79e91d69-af03-4bb9-9c1d-d07c81437507	g.chr18:46284770_46284771insC	ENST00000256413.3	+	8	1360_1361	c.1065_1066insC	c.(1066-1068)gaafs	p.E356fs	CTIF_ENST00000382998.4_Frame_Shift_Ins_p.E356fs	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	356					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GAAGGCTAAAGGAAAAGGTACC	0.515																																							uc002ldc.2		NA																	0					0						c.(1063-1068)AAGGAAfs		hypothetical protein LOC9811 isoform 1																																				SO:0001589	frameshift_variant	9811				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	g.chr18:46284770_46284771insC	AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	Exception_encountered	18.37:g.46284770_46284771insC	ENSP00000256413:p.Glu356fs					KIAA0427_uc002ldd.2_Frame_Shift_Ins_p.K355fs|KIAA0427_uc002lde.3_5'Flank	p.K355fs	NM_014772	NP_055587	O43310	CTIF_HUMAN			8	1350_1351	+			355_356					B3KTR8|Q8IVD5	Frame_Shift_Ins	INS	ENST00000256413.3	37	c.1065_1066insC	CCDS11935.1																																																																																				0.515	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772		25	247	NA	NA	NA	NA	NA	25	247	---	---	---	---
EGFR	1956	broad.mit.edu	37	7	55241679	55241681	+	In_Frame_Del	DEL	AAC	AAC	-	rs397517086|rs397517087		TCGA-55-6980-01A-11D-1945-08	TCGA-55-6980-11A-01D-1945-08	AAC	AAC	-	-	AAC	AAC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cbbf3b76-5a2d-4882-9a93-6ffa043abb59	79e91d69-af03-4bb9-9c1d-d07c81437507	g.chr7:55241679_55241681delAAC	ENST00000275493.2	+	18	2304_2306	c.2127_2129delAAC	c.(2125-2130)gaaact>gat	p.709_710ET>D	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_In_Frame_Del_p.664_665ET>D|EGFR_ENST00000454757.2_In_Frame_Del_p.656_657ET>D	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	709			E -> A (found in a lung cancer sample; more sensitive to gefitinib than wild- type). {ECO:0000269|PubMed:15623594, ECO:0000269|PubMed:16533793}.|E -> G (found in a lung cancer sample; constitutively activated kinase with higher levels of basal autophosphorylation; more sensitive to gefitinib than wild-type). {ECO:0000269|PubMed:15623594}.|E -> K (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.E709H(2)|p.T710A(1)|p.E709_T710>D(1)|p.E709_T710>G(1)|p.E709_T710>A(1)|p.E709fs*1(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TCTTGAAGGAAACTGAATTCAAA	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		7	Substitution - Missense(3)|Complex - deletion inframe(3)|Deletion - Frameshift(1)	p.E709K(17)|p.E709A(11)|p.E709G(7)|p.E709V(5)|p.E709_T710>D(5)|p.E709H(2)|p.E709_T710>G(1)|p.E709_T710>A(1)|p.E709fs*1(1)	lung(6)|large_intestine(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(2125-2130)GAAACT>GAT		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)																																			SO:0001651	inframe_deletion	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55241679_55241681delAAC		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2127_2129delAAC	7.37:g.55241679_55241681delAAC	ENSP00000275493:p.Glu709_Thr710delinsAsp	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_In_Frame_Del_p.664_665ET>D|EGFR_uc011kco.1_In_Frame_Del_p.656_657ET>D	p.709_710ET>D	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		18	2373_2375	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		709_710			Cytoplasmic (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	In_Frame_Del	DEL	ENST00000275493.2	37	c.2127_2129delAAC	CCDS5514.1																																																																																				0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		18	58	NA	NA	NA	NA	NA	18	58	---	---	---	---
